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Published online before print September 20, 2001, 10.1101/gr.182501
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Vol. 11, Issue 10, 1699-1705, October 2001

LETTER
Partial Deletion of the Bovine ED1 Gene Causes Anhidrotic Ectodermal Dysplasia in Cattle

Cord Drögemüller, Ottmar Distl, and Tosso Leeb1

Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, 30559 Hannover, Germany

Anhidrotic ectodermal dysplasia (ED1) is characterized by hypotrichosis, reduced number of sweat glands, and incisior anodontia in human, mouse, and cattle. In affected humans and mice, mutations in the ED1 gene coding for ectodysplasin 1 are found. Ectodysplasin 1 is a novel trimeric transmembrane protein with an extracellular TNF-like signaling domain that is believed to be involved in the formation of hair follicles and tooth buds during fetal development. We report the construction of a 480-kb BAC contig harboring the complete bovine ED1 gene on BTA Xq22-Xq24. Physical mapping and sequence analysis of the coding parts of the ED1 gene revealed that a large genomic region including exon 3 of the ED1 gene is deleted in cattle with anhidrotic ectodermal dysplasia in a family of German Holstein cattle with three affected maternal half sibs.

[The sequence data described in this paper have been submitted to the EMBL nucleotide database under accession nos. AJ300468, AJ300469, and AJ278907.]

1 Corresponding author.

11:1699-1705 ©2001 by Cold Spring Harbor Laboratory Press  ISSN 1088-9051/01 $5.00
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C.-Y. Cui, J. A. Smith, D. Schlessinger, and C.-C. Chan
X-Linked Anhidrotic Ectodermal Dysplasia Disruption Yields a Mouse Model for Ocular Surface Disease and Resultant Blindness
Am. J. Pathol., July 1, 2005; 167(1): 89 - 95.
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